Sentence examples for by the coding variation from inspiring English sources

However, the function(s) of ATG16L1 which are affected by the coding variation remain unknown.

In these studies, the PRNP locus was unequivocally and strongly associated with risk of prion disease, driven by the known coding variation at PRNP codon 129.

But these algorithms are not perfect, as recently illustrated by the study of genetic coding variation in the T2D gene PPARG [ 102].

By cataloging the coding sequence variations using these databases, we found that 4.36% of CVs from HGMD are concurrently registered in dbSNP (8.11% of CVs from dbSNP are concurrent in HGMD).

Clinical applications include diagnosis by recognition of compound heterozygosity and by phasing regulatory variation to coding variation.

Conversely, Flanigan et al did not find additional nonsynonymous coding variation by resequencing 40 chromosomes and querying the 1000 Genomes database, and conducted in vitro experiments showing an effect of the coding haplotype on TGFβ signaling, in conditions of equal LTBP4 protein expression.

Coding variation by site has also been described by Lorence et al., [ 28] who recorded lower oncology coding error rates in rural areas compared to metropolitan areas in the USA.

Functional studies can reveal the specific molecular changes consequences of coding variation on gene products, as well as the molecular mechanisms by which genes produce disease (102).

This study did not evaluate differences between registry and death certificates coding variation by country.

The study noted that more than 95% of one particular category of coding variation would have been missed by narrower approaches.

Genomic variation can be quantified by the coding substitutions that have accumulated in a gene.